Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554865146
rs1554865146
10 100809207 stop gained C/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 1 2014 2014
dbSNP: rs1553923787
rs1553923787
1.000 4 101083202 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 13 1987 2017
dbSNP: rs34002892
rs34002892
0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 9 2005 2016
dbSNP: rs1429181351
rs1429181351
0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 9 2005 2016
dbSNP: rs398122828
rs398122828
1.000 0.240 1 102915630 splice donor variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 6 1998 2014
dbSNP: rs1553234339
rs1553234339
1.000 1 103012412 splice donor variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 6 1998 2014
dbSNP: rs1556267123
rs1556267123
X 103786627 frameshift variant AG/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 12 1989 2016
dbSNP: rs121909574
rs121909574
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 6 1995 2015
dbSNP: rs151344530
rs151344530
0.925 0.040 6 10404511 missense variant C/G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 6 1995 2015
dbSNP: rs151344525
rs151344525
0.925 0.040 6 10404562 missense variant C/G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 6 1995 2015
dbSNP: rs587777450
rs587777450
0.790 0.320 18 10671729 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 9 2007 2017
dbSNP: rs1556299881
rs1556299881
1.000 X 107640900 splice acceptor variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 12 1993 2015
dbSNP: rs1304422857
rs1304422857
1.000 12 109511304 splice donor variant G/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 8 2003 2018
dbSNP: rs1555205335
rs1555205335
12 109788404 missense variant A/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 24 1976 2017
dbSNP: rs267607144
rs267607144
0.716 0.360 12 109800665 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 24 1976 2017
dbSNP: rs281875226
rs281875226
1.000 19 11019661 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 8 2010 2017
dbSNP: rs281875227
rs281875227
1.000 19 11021761 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 8 2010 2017
dbSNP: rs267607048
rs267607048
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 7 2009 2015
dbSNP: rs397507520
rs397507520
0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 20 1968 2016
dbSNP: rs397507529
rs397507529
0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 20 1968 2016
dbSNP: rs397507531
rs397507531
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 20 1968 2016
dbSNP: rs28933386
rs28933386
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 20 1968 2016
dbSNP: rs1554787366
rs1554787366
9 114167926 frameshift variant T/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 13 1994 2017
dbSNP: rs1554816354
rs1554816354
9 114252621 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 13 1994 2017
dbSNP: rs1554829390
rs1554829390
1.000 9 114307746 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 13 1994 2017